Canonical Allele Identifier: CA2582637704

Gene: NDUFS7

Linked Data

• gnomAD v4: 19-1391132-T-TGCCGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391137_1391142dup , CM000681.2:g.1391137_1391142dup	GRCh38
NC_000019.9:g.1391136_1391141dup , CM000681.1:g.1391136_1391141dup	GRCh37
NC_000019.8:g.1342136_1342141dup	NCBI36
NG_008283.1:g.12254_12259dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.427_432dup MANE Select	ENSP00000233627.9:p.Pro144_Arg145insGluPro
ENST00000233627.13:c.427_432dup	ENSP00000233627.9:p.Pro144_Arg145insGluPro
ENST00000313408.11:c.427_432dup	ENSP00000364262.5:p.Pro144_Arg145insGluPro
ENST00000414651.3:c.517_522dup	ENSP00000406630.2:p.Pro174_Arg175insGluPro
ENST00000436115.6:n.2382_2387dup
ENST00000534853.5:c.*221_*226dup	ENSP00000442822.1:n.*221_*226dup
ENST00000535382.1:n.679_684dup
ENST00000538523.5:n.483_488dup
ENST00000538662.5:n.522_527dup
ENST00000538929.5:n.517_522dup
ENST00000539480.5:c.427_432dup	ENSP00000443273.1:p.Pro144_Arg145insGluPro
ENST00000540530.5:n.418_423dup
ENST00000543289.5:n.985_990dup
ENST00000545446.5:n.718_723dup
ENST00000546172.7:c.*423_*428dup	ENSP00000467094.1:n.*423_*428dup
ENST00000546283.5:c.427_432dup	ENSP00000440348.1:p.Pro144_Arg145insGluPro
ENST00000618074.4:c.434_439dup	ENSP00000477895.1:p.Ala146_Ala147insGlyAla
ENST00000620479.4:c.431_436dup	ENSP00000480984.1:p.Ala145_Ala146insGlyAla
ENST00000622587.4:n.491_496dup
NM_024407.4:c.427_432dup	NP_077718.3:p.Pro144_Arg145insGluPro
XM_005259556.3:c.427_432dup	XP_005259613.2:p.Pro144_Arg145insGluPro
NM_001363602.1:c.427_432dup	NP_001350531.1:p.Pro144_Arg145insGluPro
XM_024451499.1:c.448_453dup	XP_024307267.1:p.Pro151_Arg152insGluPro
NM_024407.5:c.427_432dup MANE Select	NP_077718.3:p.Pro144_Arg145insGluPro
NM_001363602.2:c.427_432dup	NP_001350531.1:p.Pro144_Arg145insGluPro